Article
X-linked myotubular myopathy: clinical observations in ten additional cases.
American journal of medical genetics - 6 Nov 1995
Joseph M, Pai G S, Holden K R, Herman G
Abstract excerpt
X-linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies have localized the disorder to t...
Topics
- Birth Weight
- Child
- Diagnosis, Differential
- Female
- Genetic Linkage
- Head
- Humans
- Hydrocephalus
- Infant
- Infant, Newborn
- Male
- Muscle Hypotonia
- Muscles
- Muscular Diseases
- Phenotype
- Pregnancy
- X Chromosome