Article
X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
Clinical genetics - 1 May 2005
Cox K, Gattas M, Harvey P, Dolphin C, Friend K, Yu S
Abstract excerpt
No abstract is available from the source.
Topics
- Child
- Child, Preschool
- Chromosomes, Human, X
- DNA Mutational Analysis
- Fatal Outcome
- Genotype
- Humans
- Infant, Newborn
- Male
- Mutation, Missense
- Myopathies, Structural, Congenital
- Pedigree
- Phenotype
- Protein Tyrosine Phosphatases