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

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy.

Journal of the neurological sciences - 15 Apr 2003

Seijo-Martínez Manuel, Castro del Río María, Campos Yolanda, Palau Francisco, Arenas Joaquín, Teijeira Susana, Fernández Hojas Roberto, Navarro Carmen

Abstract excerpt

Myotonic dystrophy type 1 (DM1), an autosomal dominant disease characterized by a CTG expansion in the 3' region of the DMPK gene in chromosome 19, is a highly heterogeneous disease. In this study, we present a family with early onset-classical type DM, and a homogeneous phenotype highlighted by...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Blotting, Southern
Share to Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnostic and Statistical Manual of Mental Disorders

Share to Electron Transport Complex III

Share to Myotonic Dystrophy

Share to Myotonin-Protein Kinase

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 12639730
DOI: 10.1016/s0022-510x(02)00442-2

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12639730-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy.PMID 12639730Read ↗

Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.Semantic proximity Read ↗

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.Semantic proximity Read ↗

A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.Semantic proximity Read ↗

Neuropsychological deficits, structural brain changes and excessive daytime somnolence in myotonic dystrophy type 1Semantic proximity Read ↗

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.Semantic proximity Read ↗

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.Semantic proximity Read ↗

Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.Semantic proximity Read ↗

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.Semantic proximity Read ↗

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.Semantic proximity Read ↗

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature.Semantic proximity Read ↗

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1Semantic proximity Read ↗

Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation.Semantic proximity Read ↗

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