GM24463

GM24463 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMININ, ALPHA-2; LAMA2

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Class

Congenital Muscle Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; hypotonia with weakness; dysphasia; torticollis; motor functions achieved: held head up without assistance at 2-3 months, turned in bed at 6 months, sat without assistance at 9 months, cannot stand without assistance, but can walk with assistance at 3 years; CMD confirmed by muscle biopsy; heterozygous for a mutation in exon 29 of the LAMA2 gene for an undocumented mutation in C.4198 C>T, which is predicted to result in a premature protein termination (p. ARG1400stop), also heterozygous for a mutation in exon 47 C.6706 A>C: p. ARG2236 ARG mutation of unknown significance; elevated CPK of 1388; treatments include: supplemental oxygen during sleep; family history includes one affected sister.