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X‐linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female
Author(s) -
Keppen Laura Davis,
Husain Muhammad M.,
Woody Robert C.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03332.x
Subject(s) - muscle biopsy , myopathy , autosomal recessive inheritance , biopsy , inheritance (genetic algorithm) , x linked recessive inheritance , medicine , endocrinology , pathology , biology , genetics , x chromosome , gene
The myotubular myopathies are a heterogeneous group of muscle disorders in which x‐linked, autosomal recessive, and autosomal dominant inheritance hâve been reported. Female carriers of x‐linked myotubular myopathy have been reported to have abnormal muscle biopsies. We report a woman who had a normal muscle biopsy but who had 2 sons with myotubular myopathy by different fathers, indicating that a normal muscle biopsy of the mother cannot exclude x‐linked inheritance. The quantity of fetal activity correlated with the severity of the disorder in this pedigree.