GM23650

GM23650 Fibroblast from Skin, Unspecified

Description:

CENTRAL CORE DISEASE OF MUSCLE
RYANODINE RECEPTOR 1; RYR1

Affected:

Yes

Sex:

Female

Age:

1 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Sample Source

Fibroblast from Skin, Unspecified

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

GERMAN/NORWEGIAN/RUSSIAN

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms before age 2 years; holds head up without assistance; turned in bed without assistance; sat without assistance at age 11 months; maximal motor function: sitting unsupported for less than 1 hour; normal creatine kinase; muscle biopsy and muscle imaging (MRI) performed: rare core like structures identified; donor subject is a compound heterozygote: the paternal allele has a 13 bp deletion at nucleotide 7463 in exon 47 of the RYR1 gene (c.7463_7475del13) predicted to result in a frameshift and premature protein termination (p.Pro2488HisfsX39); the maternal allele has a C>T transition at nucleotide 1201 in exon 12 (c.1201C>T) resulting in the substitution of cysteine for arginine at codon 401 [Arg401Cys (R401C)]; Treatments: breathing treatment medications.