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

A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jan 2000

Jardine P E, Upadhyaya M, Maynard J, Harper P, Lunt P W

Abstract excerpt

A dominantly inherited muscular dystrophy with onset in the shoulder girdle and later progression to the lower limbs is described. The disorder was clinically distinguishable from known facioscapulohumeral, scapulohumeral and limb girdle syndromes. A 38 kb allele detected by probe p13E-11 (D4F104S1) segregated with the disease. Linkage analysis gave a maximum lod score of z = 1.61 at theta = 0.01 with the 4q35...

Topics

Adolescent
Adult
Alleles
Creatine Kinase
DNA
Genetic Linkage
Genome
Haplotypes
Humans
Male
Middle Aged
Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscular Dystrophies

Pedigree

Point Mutation

Source

Identifiers

PMID: 7881292
DOI: 10.1016/0960-8966(94)90087-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7881292-2026-08-29.1. 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

A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy.PMID 7881292Read ↗

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

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.Semantic proximity Read ↗

Facioscapulohumeral dystrophy.Semantic proximity Read ↗

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).Semantic proximity Read ↗

Chromosome 12‐linked autosomal dominant scapuloperoneal muscular dystrophySemantic proximity Read ↗

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.Semantic proximity Read ↗

Familial scapuloperoneal myopathy and mitochondrial DNA defect.Semantic proximity Read ↗

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?Semantic proximity Read ↗

Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.Semantic proximity Read ↗

Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.Semantic proximity Read ↗

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.Semantic proximity Read ↗

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.Semantic proximity Read ↗

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