[Myotubular myopathy. Case report and review of the literature].
The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.
Kovács
S Krisztián
SK
Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Pathológiai Intézet. kovacsskrisztian@hotmail.com
Korcsik
József
J
Szabó
Hajnalka
H
Bódi
István
I
Katona
Márta
M
Bereg
Edit
E
Endreffy
Emoke
E
Túri
Sándor
S
Hortobágyi
Tibor
T
Sztriha
László
L
D001706:Biopsy; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000209:etiology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*; D011379:Prognosis; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D013941:Thymine