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Article

X-linked myotubular myopathy--a long-term follow-up study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 1998

Barth P G, Dubowitz V

Abstract excerpt

X-Linked myotubular myopathy is a well delineated congenital myopathy, with a high neonatal and early childhood mortality. Only a single gene, mapping to Xq28 has been implicated and has recently been characterized. Phenotypic variability, both inter- and intrafamilial, has been recorded. Its severest expression is a uniform disease with polyhydramnios due to prenatal (neuromuscular) swallowing disorder, and...

Topics

Adult
Biopsy, Needle
Follow-Up Studies
Humans
Male
Muscle, Skeletal
Myopathies, Structural, Congenital
Myotonic Disorders
Nerve Fibers
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Severity of Illness Index

X Chromosome

Source

Identifiers

PMID: 10726846
DOI: 10.1016/1090-3798(98)01004-9

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