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March 2, 1999Proceedings of the National Academy of SciencesOpen Access

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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Population

Patients from five families of different ethnic origins with autosomal recessive nemaline myopathy

Design

Other

Authors

KPKatarina PelinUniversity of HelsinkiPHPirta HilpeläUniversity of HelsinkiKDKati DonnerUniversity of Helsinki

Discussion

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Implication

Nebulin mutations support targeted genetic testing in recessive nemaline myopathy families; leaves open prevalence, cardiac effects, and therapeutic implications.

Structured PICO

P
Population
Patients from five families of different ethnic origins with autosomal recessive nemaline myopathy
O
Outcome
Identification of disease-associated mutations in the nebulin gene

Mutations in the nebulin gene are associated with the typical autosomal recessive form of nemaline myopathy.

Cite This Study

Pelin et al. (1999) studied this question.

synapsesocial.com/papers/6a8e9e1496767b15a7fff4behttps://doi.org/10.1073/pnas.96.5.2305
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy1997 · 28 citations
  2. 2A sarcomeric alpha-actinin truncated at the carboxyl end induces the breakdown of stress fibers in PtK2 cells and the formation of nemaline-like bodies and breakdown of myofibrils in myotubes.1992 · 57 citations
  3. 3Dispensability of the Actin-Binding Site and Spectrin Repeats for Targeting Sarcomeric α-Actinin into Maturing Z Bandsin Vivo:Implications forin VitroBinding Studies1998 · 32 citations
  4. 4The NH2 Terminus of Titin Spans the Z-Disc: Its Interaction with a Novel 19-kD Ligand (T-cap) Is Required for Sarcomeric Integrity1998 · 324 citations
  5. 5Muscle Disorders in Childhood1996 · 170 citations