X-linked myotubular myopathy
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.
MONDO:0002921
congenital structural myopathy
excluded_subClassOf
MONDO:0016154
obsolete qualitative or quantitative defects of myotubularin (obsolete MONDO:0016154)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0000425
X-linked disease
is_a
MONDO:0018947
centronuclear myopathy
is_a
CNMX
related
MTM
exact
X-linked centronuclear myopathy
exact
X-linked myotubular myopathy
exact
XLCNM
exact
XLMTM
exact
centronuclear myopathy, X-linked
exact
myopathy, centronuclear, X-linked
related
myotubular myopathy, X-linked, X-linked recessive
exact
SPAC19A8.03