|
1
|
Romero NB: Centronuclear myopathies: A
widening concept. Neuromuscul Disord. 20:223–228. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Laporte J, Hu LJ, Kretz C, Mandel JL,
Kioschis P, Coy JF, Klauck SM, Poustka A and Dahl N: A gene mutated
in X-linked myotubular myopathy defines a new putative tyrosine
phosphatase family conserved in yeast. Nat Genet. 13:175–182. 1996.
View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Nicot AS, Toussaint A, Tosch V, Kretz C,
Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM,
Biancalana V, Oldfors A, et al: Mutations in amphiphysin 2 (BIN1)
disrupt interaction with dynamin 2 and cause autosomal recessive
centronuclear myopathy. Nat Genet. 39:1134–1139. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Bitoun M, Bevilacqua JA, Prudhon B,
Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C,
Uro-Coste E, Mayer M, et al: Dynamin 2 mutations cause sporadic
centronuclear myopathy with neonatal onset. Ann Neurol. 62:666–670.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Bitoun M, Maugenre S, Jeannet PY, Lacène
E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs
AH, et al: Mutations in dynamin 2 cause dominant centronuclear
myopathy. Nat Genet. 37:1207–1209. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Bitoun M, Bevilacqua JA, Eymard B, Prudhon
B, Fardeau M, Guicheney P and Romero NB: A new centronuclear
myopathy phenotype due to a novel dynamin 2 mutation. Neurology.
72:93–95. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Hanisch F, Müller T, Dietz A, Bitoun M,
Kress W, Weis J, Stoltenburg G and Zierz S: Phenotype variability
and histopathological findings in centronuclear myopathy due to
DNM2 mutations. J Neurol. 258:1085–1090. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Fischer D, Herasse M, Bitoun M, Bar
ragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B,
Guicheney P and Romero NB: Characterization of the muscle
involvement in dynamin 2-related centronuclear myopathy. Brain.
129:1463–1469. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Melberg A, Kretz C, Kalimo H,
Wallgren-Pettersson C, Toussaint A, Böhm J, Stålberg E and Laporte
J: Adult course in dynamin 2 dominant centronuclear myopathy with
neonatal onset. Neuromuscul Disord. 20:53–56. 2010. View Article : Google Scholar
|
|
10
|
Böhm J, Biancalana V, Dechene ET, Bitoun
M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine
N, et al: Mutation spectrum in the large GTPase dynamin 2, and
genotype-phenotype correlation in autosomal dominant centronuclear
myopathy. Hum Mutat. 33:949–959. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Schessl J, Medne L, Hu Y, Zou Y, Brown MJ,
Huse JT, Torigian DA, Jungbluth H, Goebel HH and Bönnemann CG: MRI
in DNM2-related centronuclear myopathy: Evidence for highly
selective muscle involvement. Neuromuscul Disord. 17:28–32. 2007.
View Article : Google Scholar
|
|
12
|
Hørder M and Gerhardt W: The Scandinavian
committee on enzymes. Scand J Clin Lab Invest Suppl. 179:13–17.
1985.
|
|
13
|
Finsterer J and Fuglsang-Frederiksen A:
Concentric needle EMG versus macro EMG I. Relation in healthy
subjects. Clin Neurophysiol. 111:1211–1215. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Spiro AJ, Shy GM and Gonatas NK:
Myotubular myopathy. Persistence of fetal muscle in an adolescent
boy. Arch Neurol. 14:1–14. 1966. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Sher JH, Rimalovske AB, Athanassiades TJ
and Aronson SM: Familial centronuclear myopathy: A clinical and
pathological study. Neurology. 17:727–742. 1967. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Susman RD, Quijano-Roy S, Yang N, Webster
R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V,
Ilkovski B, et al: Expanding the clinical, pathological and MRI
phenotype of DNM2-related centronuclear myopathy. Neuromuscul
Disord. 20:229–237. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Mori-Yoshimura M, Okumab A, Oyaa Y,
Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC,
Hayashi YK, Nonaka I, et al: Clinicopathological features of
centronuclear myopathy in Japanese populations harboring mutations
in dynamin 2. Clin Neurol Neurosurg. 114:678–683. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Jungbluth H, Wallgren-Pettersson C and
Laporte J: Centronuclear (myotubular) myopathy. Orphanet J Rare
Dis. 3:262008. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Catteruccia M, Fattori F, Codemo V,
Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A,
Verardo M, et al: Centronuclear myopathy related to dynamin 2
mutations: Clinical, morphological, muscle imaging and genetic
features of an Italian cohort. Neuromuscul Disord. 23:229–238.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Jungbluth H, Wallgren-Pettersson C and
Laporte JF: Centronuclear (Myotubular) Myopathy Consortium: 198th
ENMC International workshop: 7th workshop on centronuclear
(myotubular) myopathies, 31st May–2nd June 2013, Naarden, The
Netherlands. Neuromuscul Disord. 23:1033–1043. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Kerst B, Mennerich D, Schuelke M,
Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK,
Speer A, Braun T and Hübner C: Heterozygous myogenic factor 6
mutation associated with myopathy and severe course of Becker
muscular dystrophy. Neuromuscul Disord. 10:572–577. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Jeannet PY, Bassez G, Eymard B, Laforêt P,
Urtizberea JA, Rouche A, Guicheney P, Fardeau M and Romero NB:
Clinical and histologic findings in autosomal centronuclear
myopathy. Neurology. 62:1484–1490. 2004. View Article : Google Scholar : PubMed/NCBI
|
