Discover Community Create You

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

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Neurology - 25 Nov 2008

Stamm D S, Powell C M, Stajich J M, Zismann V L, Stephan D A, Chesnut B, Aylsworth A S, Kahler S G, Deak K L, Gilbert J R, Speer M C

Abstract excerpt

BACKGROUND: Native American myopathy (NAM) is an autosomal recessive congenital myopathy first reported in the Lumbee Indian people. Features of NAM include congenital weakness, cleft palate, ptosis, short stature, and susceptibility to malignant hyperthermia provoked by anesthesia. METHOD: We identified five individuals with NAM from the Lumbee population, and hypothesized that these affected individuals have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 12
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Contracture

Share to Indians, North American

Share to Malignant Hyperthermia

Share to Muscle Weakness

Share to Myopathies, Structural, Congenital

Share to North Carolina

Source

Identifiers

PMID: 18843099
DOI: 10.1212/01.wnl.0000325060.16532.40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.PMID 18843099Read ↗

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Semantic proximity Read ↗

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.Semantic proximity Read ↗

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.Semantic proximity Read ↗

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies.Semantic proximity Read ↗

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

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.Semantic proximity Read ↗

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.Semantic proximity Read ↗

Estimating the Prevalence of GNE Myopathy Using Population Genetic DatabasesSemantic proximity Read ↗

GNE myopathy in Chinese population: hotspot and novel mutationsSemantic proximity Read ↗

DOK7 mutations presenting as a proximal myopathy in French Canadians.Semantic proximity Read ↗

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.Semantic proximity Read ↗

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