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Article

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Neuromuscular disorders : NMD - 1 Feb 2009

Monnier Nicole, Lunardi Joel, Marty Isabelle, Mezin Paulette, Labarre-Vila Annick, Dieterich Klaus, Jouk Pierre Simon

Abstract excerpt

While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-letha...

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Source

Identifiers

PMID: 19155175
DOI: 10.1016/j.nmd.2008.11.009

Genes

TPM2
CHRNA1
CHRND
CHRNG
RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19155175-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.PMID 19155175Read ↗

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.Semantic proximity Read ↗

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.Semantic proximity Read ↗

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.Semantic proximity Read ↗

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.Semantic proximity Read ↗

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.Semantic proximity Read ↗

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.Semantic proximity Read ↗

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.Semantic proximity Read ↗

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.Semantic proximity Read ↗

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.Semantic proximity Read ↗

A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesisSemantic proximity Read ↗

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.Semantic proximity Read ↗

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.Semantic proximity Read ↗

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