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July 23, 2002Neurology

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

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Key result

Recessive RYR1 mutations, including a V4849I homozygous missense mutation, were identified in three patients with a congenital myopathy and cores on muscle biopsy.

Population

3 patients from 2 consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy…

Design

Case_series

Authors

HJHeinz JungbluthInstitute of PhysicsCMC. R. MüllerRoche (Switzerland)BHB. Halliger–KellerUniversity of Würzburg

Discussion

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Implication

Recessive RYR1 mutations may underlie congenital myopathy with cores; extends inheritance spectrum but remains hypothesis-generating from case reports.

Study Design

Type

Case Report (n=3)

Structured PICO

P
Population
3 patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYR1 locus.
O
Outcome
Identification of genetic mutations (V4849I homozygous missense mutation in the RYR1 gene)

This report provides evidence that congenital myopathy with cores can be associated with autosomal recessive RYR1 mutations, expanding the known genetic mechanisms beyond dominant inheritance.

Cite This Study

Jungbluth et al. (2002) conducted a case report in Congenital myopathy with cores (n=3). Recessive RYR1 mutations was evaluated on Identification of RYR1 mutations. Recessive RYR1 mutations, including a V4849I homozygous missense mutation, were identified in three patients with a congenital myopathy and cores on muscle biopsy.

synapsesocial.com/papers/6a86ee22b688e10ffe82b88ahttps://doi.org/10.1212/wnl.59.2.284
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Also Consider

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

  1. 1A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca 2+ release channel function and severe central core disease1999 · 235 citations
  2. 2Caffeine and Halothane Sensitivity of Intracellular Ca2+ Release Is Altered by 15 Calcium Release Channel (Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia and/or Central Core Disease1997 · 255 citations
  3. 3Genetics of congenital nemaline myopathy: a study of 10 families.1990 · 34 citations
  4. 4Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis2001 · 158 citations
  5. 5An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor2000 · 210 citations