Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.

doi:10.1016/0960-8966(94)00062-e

Back to search

Article

Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.

Neuromuscular disorders : NMD - 1 Jul 1995

Tsujino S, Shanske S, Carroll J E, Sabina R L, DiMauro S

Abstract excerpt

A 2-yr-old boy had congenital hypotonia, limb weakness, exercise intolerance and one episode of myoglobinuria. Histochemical and biochemical analysis of muscle showed a combined defect of phosphorylase and AMP deaminase. DNA analysis showed that the child was homozygous for the mutations commonly...

Topics

AMP Deaminase
Base Sequence
Child, Preschool
Codon, Nonsense
Female
Homozygote
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Phosphorylases

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.