[Facioscapulohumeral muscular dystrophy (FSHD)].

Article

[Facioscapulohumeral muscular dystrophy (FSHD)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997

Funakoshi M, Goto K, Kim B Y, Arahata K

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900) is one of the major forms of muscular dystrophy, and is inherited in an autosomal dominant fashion. In most patients with FSHD, deletion of 3.3 kb tandemly repeated units within the EcoRI fragment, as detected by p13E-11 (D4F104S1) on chro...

Topics

Chromosomes, Human, Pair 4
Deoxyribonuclease EcoRI
Gene Deletion
Genes, Dominant
Genotype
Heterozygote
Humans
Muscular Dystrophies
Phenotype
Repetitive Sequences, Nucleic Acid

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.