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

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?

Journal of the neurological sciences - 15 Feb 2009

Gamez Josep, Armstrong Judith, Shatunov Alexey, Selva-O'Callaghan Albert, Dominguez-Oronoz Rosa, Ortega Arantxa, Goldfarb Lev, Ferrer Isidre, Olivé Montse

Abstract excerpt

Myotilinopathies are a group of muscle disorders caused by mutations in the MYOT gene. It was first described in two families suffering from limb girdle muscle dystrophy type 1 (LGMD 1A), and later identified in a subset of dominant or sporadic patients suffering from myofibrillar myopathy, as well as in a family with spheroid body myopathy. Disease phenotypes associated with MYOT mutations are clinically...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Connectin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Hypertrophy

Share to Microfilament Proteins

Share to Muscle Proteins

Share to Muscle Weakness

Share to Muscular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 19027924
DOI: 10.1016/j.jns.2008.10.019
PMCID: PMC2760960

Genes

MYOT

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

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?PMID 19027924Read ↗

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.Semantic proximity Read ↗

Myotilinopathy: refining the clinical and myopathological phenotype.Semantic proximity Read ↗

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.Semantic proximity Read ↗

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.Semantic proximity Read ↗

Novel recessive myotilin mutation causes severe myofibrillar myopathy.Semantic proximity Read ↗

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).Semantic proximity Read ↗

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.Semantic proximity Read ↗

Myotilinopathy in a family with late onset myopathy.Semantic proximity Read ↗

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.Semantic proximity Read ↗

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.Semantic proximity Read ↗

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).Semantic proximity Read ↗

Sarcoglycanopathies: a clinico-pathological study.Semantic proximity Read ↗

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