1
|
Wicklund MP: The limb-girdle muscular
dystrophies. Continuum (Minneap Minn). 25:1599–1618.
2019.PubMed/NCBI
|
2
|
Nallamilli BRR, Chakravorty S, Kesari A,
Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander
JJ, Askree SH, et al: Genetic landscape and novel disease
mechanisms from a large LGMD cohort of 4656 patients. Ann Clin
Transl Neurol. 5:1574–1587. 2018. View
Article : Google Scholar : PubMed/NCBI
|
3
|
Oliveira Santos M, Ninitas P and Conceição
I: Severe limb-girdle muscular dystrophy 2A in two young siblings
from Guinea-Bissau associated with a novel null homozygous mutation
in CAPN3 gene. Neuromuscul Disord. 28:1003–1005. 2018. View Article : Google Scholar : PubMed/NCBI
|
4
|
Bushby KM: The limb-girdle muscular
dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet.
8:1875–1882. 1999. View Article : Google Scholar : PubMed/NCBI
|
5
|
Angelini C and Fanin M: Calpainopathy.
GeneReviews®. Adam MP, Ardinger HH, Pagon RA and Wallace
SE: University of Washington; Seattle, WA: 2005
|
6
|
Straub V, Murphy A and Udd B; LGMD
workshop study group, : 229th ENMC international workshop: Limb
girdle muscular dystrophies - Nomenclature and reformed
classification Naarden, the Netherlands, 17–19 March 2017.
Neuromuscul Disord. 28:702–710. 2018. View Article : Google Scholar : PubMed/NCBI
|
7
|
Landires I, Núñez-Samudio V, Fernandez J,
Sarria C, Villareal V, Córdoba F, Apráez-Ippolito G, Martínez S,
Vidal OM, Vélez JI, et al: Calpainopathy: Description of a novel
mutation and clinical presentation with early severe contractures.
Genes (Basel). 11:E1292020. View Article : Google Scholar : PubMed/NCBI
|
8
|
Martinez-Thompson JM, Niu Z, Tracy JA,
Moore SA, Swenson A, Wieben ED and Milone M: Autosomal dominant
calpainopathy due to heterozygous CAPN3 C.643_663del21. Muscle
Nerve. 57:679–683. 2018. View Article : Google Scholar : PubMed/NCBI
|
9
|
Richard I, Hogrel JY, Stockholm D, Payan
CA, Fougerousse F, Eymard B, Mignard C, Lopez de Munain A, Fardeau
M and Urtizberea JA; Calpainopathy Study Group, : Natural history
of LGMD2A for delineating outcome measures in clinical trials. Ann
Clin Transl Neurol. 3:248–265. 2016. View
Article : Google Scholar : PubMed/NCBI
|
10
|
Richard I, Broux O, Allamand V,
Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C,
Pasturaud P, Roudaut C, et al: Mutations in the proteolytic enzyme
calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell.
81:27–40. 1995. View Article : Google Scholar : PubMed/NCBI
|
11
|
Leiden Database, . https://databases.lovd.nl/shared/genes/CAPN3September
2–2020
|
12
|
Park HJ, Jang H, Lee JH, Shin HY, Cho SR,
Park KD, Bang D, Lee MG, Kim SM, Lee JH, et al: Clinical and
pathological heterogeneity of korean patients with CAPN3 mutations.
Yonsei Med J. 57:173–179. 2016. View Article : Google Scholar : PubMed/NCBI
|
13
|
Fanin M, Nascimbeni AC and Angelini C:
Gender difference in limb-girdle muscular dystrophy: A muscle fiber
morphometric study in 101 patients. Clin Neuropathol. 33:179–185.
2014. View
Article : Google Scholar : PubMed/NCBI
|
14
|
Fanin M and Angelini C: Progress and
challenges in diagnosis of dysferlinopathy. Muscle Nerve.
54:821–835. 2016. View Article : Google Scholar : PubMed/NCBI
|
15
|
Angelini C, Nardetto L, Borsato C, Padoan
R, Fanin M, Nascimbeni AC and Tasca E: The clinical course of
calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurol Res.
32:41–46. 2010. View Article : Google Scholar : PubMed/NCBI
|
16
|
Duguez S, Bartoli M and Richard I: Calpain
3: A key regulator of the sarcomere? FEBS J. 273:3427–3436. 2006.
View Article : Google Scholar : PubMed/NCBI
|
17
|
Pantoja-Melendez CA, Miranda-Duarte A,
Roque-Ramirez B and Zenteno JC: Epidemiological and molecular
characterization of a Mexican population isolate with high
prevalence of limb-girdle muscular dystrophy type 2A due to a novel
calpain-3 mutation. PLoS One. 12:e01702802017. View Article : Google Scholar : PubMed/NCBI
|
18
|
Gallardo E, Saenz A and Illa I:
Limb-girdle muscular dystrophy 2A. Handb Clin Neurol. 101:97–110.
2011. View Article : Google Scholar : PubMed/NCBI
|
19
|
Ono Y, Ojima K, Shinkai-Ouchi F, Hata S
and Sorimachi H: An eccentric calpain, CAPN3/p94/calpain-3.
Biochimie. 122:169–187. 2016. View Article : Google Scholar : PubMed/NCBI
|
20
|
Lasa-Elgarresta J, Mosqueira-Martín L,
Naldaiz-Gastesi N, Sáenz A, López de Munain A and
Vallejo-Illarramendi A: Calcium mechanisms in limb-girdle muscular
dystrophy with CAPN3 mutations. Int J Mol Sci. 20:E45482019.
View Article : Google Scholar : PubMed/NCBI
|
21
|
Hauerslev S, Sveen ML, Duno M, Angelini C,
Vissing J and Krag TO: Calpain 3 is important for muscle
regeneration: Evidence from patients with limb girdle muscular
dystrophies. BMC Musculoskelet Disord. 13:432012. View Article : Google Scholar : PubMed/NCBI
|
22
|
Maki M: Structures and functions of
penta-EF-hand calcium-binding proteins and their interacting
partners: Enigmatic relationships between ALG-2 and calpain-7.
Biosci Biotechnol Biochem. 84:651–660. 2020. View Article : Google Scholar : PubMed/NCBI
|
23
|
Sáenz A, Leturcq F, Cobo AM, Poza JJ,
Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J,
Gutiérrez-Rivas E, et al: LGMD2A: Genotype-phenotype correlations
based on a large mutational survey on the calpain 3 gene. Brain.
128:732–742. 2005. View Article : Google Scholar
|
24
|
Toral-Ojeda I, Aldanondo G,
Lasa-Elgarresta J, Lasa-Fernández H, Fernández-Torrón R, López de
Munain A and Vallejo-Illarramendi A: Calpain 3 deficiency affects
SERCA expression and function in the skeletal muscle. Expert Rev
Mol Med. 18:e72016. View Article : Google Scholar : PubMed/NCBI
|
25
|
Taveau M, Bourg N, Sillon G, Roudaut C,
Bartoli M and Richard I: Calpain 3 is activated through autolysis
within the active site and lyses sarcomeric and sarcolemmal
components. Mol Cell Biol. 23:9127–9135. 2003. View Article : Google Scholar : PubMed/NCBI
|
26
|
Taghizadeh E, Rezaee M, Barreto GE and
Sahebkar A: Prevalence, pathological mechanisms, and genetic basis
of limb-girdle muscular dystrophies: A review. J Cell Physiol.
234:7874–7884. 2019. View Article : Google Scholar : PubMed/NCBI
|
27
|
Li H and Durbin R: Fast and accurate
long-read alignment with Burrows-Wheeler transform. Bioinformatics.
26:589–595. 2010. View Article : Google Scholar : PubMed/NCBI
|
28
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M, et al: The Genome Analysis Tool kit: A MapReduce framework for
analyzing next-generation DNA sequencing data. Genome Res.
20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI
|
29
|
Wang K, Li M and Hakonarson H: ANNOVAR:
Functional annotation of genetic variants from high-throughput
sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI
|
30
|
Tran KT, Le VS, Bui HTP, Do DH, Ly HTT,
Nguyen HT, Dao LTM, Nguyen TH, Vu DM, Ha LT, et al: Genetic
landscape of autism spectrum disorder in Vietnamese children. Sci
Rep. 10:50342020. View Article : Google Scholar : PubMed/NCBI
|
31
|
Schwede T, Kopp J, Guex N and Peitsch MC:
SWISS-MODEL: An automated protein homology-modeling server. Nucleic
Acids Res. 31:3381–3385. 2003. View Article : Google Scholar : PubMed/NCBI
|
32
|
Partha SK, Ravulapalli R, Allingham JS,
Campbell RL and Davies PL: Crystal structure of calpain-3
penta-EF-hand (PEF) domain - a homodimerized PEF family member with
calcium bound at the fifth EF-hand. FEBS J. 281:3138–3149. 2014.
View Article : Google Scholar : PubMed/NCBI
|
33
|
Arevalo-Rodriguez I, Smailagic N, Roqué I
Figuls M, Ciapponi A, Sanchez-Perez E, Giannakou A, Pedraza OL,
Bonfill Cosp X and Cullum S: Mini-Mental State Examination (MMSE)
for the detection of Alzheimer's disease and other dementias in
people with mild cognitive impairment (MCI). Cochrane Database Syst
Rev. 2015:CD0107832015.PubMed/NCBI
|
34
|
Compston A: Aids to the investigation of
peripheral nerve injuries. Medical Research Council: Nerve Injuries
Research Committee. His Majesty's Stationery Office: 1942; pp. 48
(iii) and 74 figures and 7 diagrams; with aids to the examination
of the peripheral nervous system. By Michael O'Brien for the
Guarantors of Brain. Saunders Elsevier: 2010; pp. [8] 64 and 94
Figures, . Brain. 133:2838–2844. 2010. View Article : Google Scholar : PubMed/NCBI
|
35
|
Rasmussen LH, Madsen HN and Ladefoged SD:
Creatine phosphokinase MB and lactate dehydrogenase isoenzyme 1 in
polymyositis. Scand J Rheumatol. 14:427–430. 1985. View Article : Google Scholar : PubMed/NCBI
|
36
|
Minami N, Nishino I, Kobayashi O, Ikezoe
K, Goto Y and Nonaka I: Mutations of calpain 3 gene in patients
with sporadic limb-girdle muscular dystrophy in Japan. J Neurol
Sci. 171:31–37. 1999. View Article : Google Scholar : PubMed/NCBI
|
37
|
Park HJ, Jang H, Kim JH, Lee JH, Shin HY,
Kim SM, Park KD, Yim SV, Lee JH and Choi YC: Discovery of
pathogenic variants in a large Korean cohort of inherited muscular
disorders. Clin Genet. 91:403–410. 2017. View Article : Google Scholar : PubMed/NCBI
|
38
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al ACMG
Laboratory Quality Assurance Committee, : Standards and guidelines
for the interpretation of sequence variants: A joint consensus
recommendation of the American College of Medical Genetics and
Genomics and the Association for Molecular Pathology. Genet Med.
17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI
|
39
|
Ten Dam L, Frankhuizen WS, Linssen WHJP,
Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo
R, et al: Autosomal recessive limb-girdle and Miyoshi muscular
dystrophies in the Netherlands: The clinical and molecular spectrum
of 244 patients. Clin Genet. 96:126–133. 2019. View Article : Google Scholar : PubMed/NCBI
|
40
|
Cerino M, Campana-Salort E, Salvi A,
Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic
T, Bonello-Palot N, et al: Novel CAPN3 variant associated with an
autosomal dominant calpainopathy. Neuropathol Appl Neurobiol.
46:564–578. 2020. View Article : Google Scholar : PubMed/NCBI
|
41
|
Vissing J, Barresi R, Witting N, Van
Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson
J, Wahl CM, et al: A heterozygous 21-bp deletion in CAPN3 causes
dominantly inherited limb girdle muscular dystrophy. Brain.
139:2154–2163. 2016. View Article : Google Scholar : PubMed/NCBI
|
42
|
Urtasun M, Sáenz A, Roudaut C, Poza JJ,
Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F,
Kaplan JC, et al: Limb-girdle muscular dystrophy in Guipúzcoa
(Basque Country, Spain). Brain. 121:1735–1747. 1998. View Article : Google Scholar : PubMed/NCBI
|
43
|
Fanin M and Angelini C: Protein and
genetic diagnosis of limb girdle muscular dystrophy type 2A: The
yield and the pitfalls. Muscle Nerve. 52:163–173. 2015. View Article : Google Scholar : PubMed/NCBI
|
44
|
Fanin M, Fulizio L, Nascimbeni AC,
Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan
CP, Politano L, et al: Molecular diagnosis in LGMD2A: Mutation
analysis or protein testing? Hum Mutat. 24:52–62. 2004. View Article : Google Scholar : PubMed/NCBI
|
45
|
Hanisch F, Müller CR, Grimm D, Xue L,
Traufeller K, Merkenschlager A, Zierz S and Deschauer M: Frequency
of calpain-3 c.550delA mutation in limb girdle muscular dystrophy
type 2 and isolated hyperCKemia in German patients. Clin
Neuropathol. 26:157–163. 2007. View Article : Google Scholar : PubMed/NCBI
|
46
|
Fardeau M, Hillaire D, Mignard C, Feingold
N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I,
et al: Juvenile limb-girdle muscular dystrophy. Clinical,
histopathological and genetic data from a small community living in
the Reunion Island. Brain. 119:295–308. 1996. View Article : Google Scholar : PubMed/NCBI
|
47
|
Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu
P, Lv H, Zhang W, Yuan Y and Wang Z: Mutational spectrum of Chinese
LGMD patients by targeted next-generation sequencing. PLoS One.
12:e01753432017. View Article : Google Scholar : PubMed/NCBI
|