Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Muscular dystrophy with separate clinical phenotypes in a large family.

Muscle & nerve - 1 Nov 1991

Udd B, Kääriänen H, Somer H

Abstract excerpt

This report describes a large consanguineous family with muscular dystrophy in 23 patients showing intrafamilial variation of clinical expression. One main variant appeared in the first decade with proximal muscle weakness progressing over the next 20 years to wheelchair confinement, and appeared compatible with classical limb-girdle muscular dystrophy. The other main variant showed onset of distal muscle...

Topics

Adult
Aged
Aged, 80 and over
Biopsy
Creatine Kinase
Electromyography
Humans
Middle Aged
Muscles
Muscular Dystrophies
Neural Conduction
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Source

Identifiers

PMID: 1745277
DOI: 10.1002/mus.880141103

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1745277-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

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

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Muscular dystrophy with separate clinical phenotypes in a large family.PMID 1745277Read ↗

Distal myopathies.Semantic proximity Read ↗

Limb-girdle muscular dystrophy-associated protein diseases.Semantic proximity Read ↗

A distinct phenotype of distal myopathy in a large Finnish family.Semantic proximity Read ↗

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.Semantic proximity Read ↗

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophySemantic proximity Read ↗

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes.Semantic proximity Read ↗

Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family.Semantic proximity Read ↗

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of boneSemantic proximity Read ↗

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles.Semantic proximity Read ↗

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.Semantic proximity Read ↗

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.Semantic proximity Read ↗

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.