X-linked centronuclear myopathy

Orpha code: 596OMIM code: 310400

Definition

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.

Disease data
Classification

Disease

Synonyms
X-linked myotubular myopathy
XLCNM
XLMTM
Miopatia miotubularna sprzężona z płcią
XLCNM
XLMTM
ORPHA code
596
OMIM code
310400
ICD10 code
G71.2
ICD11 code
8C72.01

No additional description.

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