[Myotubular myopathy linked to chromosome X. Pathological and clinical case study].
We present a case of X-linked myotubular myopathy in a boy who died neonatally because of respiratory insufficiency. Five biopsy revealed predominance and hypotrophy of type 1 fibres with central nuclei in the majority of them, without perinuclear ATPasa activity. Electron microscopic study corroborated these features and showed the absence of perinuclear myofibres. In the postmortem examination there was no involvement of others organs including the central nervous system.
García-Bragado
F
F
Unidad de neuropatología (Anatomía Patológica), H. Virgen del Camino, Pamplona.
Hernández
M
M
de Miguel
C
C
López Unzu
A
A
Martínez
B
B
D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008870:Microtubules / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome
Miopatía miotubular ligada al cromosoma X. Estudio clínico y patológico de un caso.