GM23721

GM23721 LCL from B-Lymphocyte

Description:

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
MYELIN PROTEIN ZERO; MPZ

Affected:

Yes

Sex:

Female

Age:

81 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable 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

SWEDISH

Family History

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at age 42 years; diagnosis at age 45 years; loss of balance; cannot stand alone without hanging onto something; severe lumbar spinal stenosis- canal size down to 6 to 7mm at L4-5; both legs weak with greater weakness on left; weakened dorsiflexion; abnormal needle EMG examination results-subacute neuropathic changes detected in all muscles sampled, including distal and proximal muscles, evidence of multilevel chronic L-S radiculopathy affecting muscles from the L3 to S1-2 on the left; heterozygous for a T>A transversion at nucleotide 418 of the MPZ gene resulting in the substitution of threonine for serine at codon 140 [Ser140Thr (S140T)]-this sequence alteration was reported by Athena diagnostics as an indeterminate result; no sequence alterations were identified in the following tests PMP22 dup/del, Cx32 sequencing, PMP22 sequencing, EGR2 sequencing, and NF-L sequencing; subject’s daughter tested negative for CMTX mutations; assistive devices include: orthotics, hearing aid, and walker; occupational therapy; affected family members include:1 daughter, 2 maternal cousins, and 1 maternal uncle.