X-linked myotubular myopathy: report of a case with novel mutation.
Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.
Hortobágyi
Tibor
T
Department of Histopathology University of Szeged, Szeged, Hungary. tibor.hortobagyi@kingsch.nhs.uk
Szabó
Hajnalka
H
Kovács
Krisztián S
KS
Bódi
István
I
Bereg
Edit
E
Katona
Márta
M
Biancalana
Valérie
V
Túri
Sándor
S
Sztriha
László
L
D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin