NA23507

NA23507 DNA from LCL

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

Class

Congenital Muscle Diseases

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Ethnicity

Not Hispanic/Latino

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; abnormal creatine kinase, 2099 umol/L; diagnostic muscle biopsy showed fiber Type I predominance with negative staining for merosin and normal staining for alpha dystoglycan and Collagen VI;generalized hypotonia; gross motor developmental delays; bilateral equinus ankle contractures with varus tendencies of his feet (right worse than left) - unable to tolerate serial casting; dysphagia; contractures; scoliosis; poor sleep; at risk for hypoventilation and aspiration; held head up without assistance by age 6 months; turned in bed by age 2 years; sat without assistance at 3 years of age; donor subject is a compound heterozygote: one allele has a C>A transversion at nucleotide 2901 in exon 21 of the LAMA2 gene (c.2901C>A) predicted to result in premature protein termination [Cys967Ter (C967X)]. This mutation is reported to be causative for merosin-deficient CMD. The second allele has a G>T transversion at the junction of exon 45 and intron 45 (c.6429+1G>T) expected to disrupt normal splicing and to be causative for this disorder.