The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

TY - JOUR

T1 - The enlarging spectrum of desminopathies

T2 - new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

AU - Vrabie, Alexandra

AU - Goldfarb, Lev G

AU - Shatunov, Alexey

AU - Nägele, Andrea

AU - Fritz, Peter

AU - Kaczmarek, Ingo

AU - Goebel, Hans H

PY - 2005/4

Y1 - 2005/4

N2 - A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing numerous proteins, foremost desmin, as did cardiac biopsy tissue. The explanted heart of the younger brother showed similar protein-rich plaques and granulofilamentous material within cardiac myocytes. A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 was found in the older brother. While clinical data and muscle biopsy pathology of the older brother conform to the nosological spectrum of desminopathies, the early-onset cardiomyopathy, a similar cardiac pathology as in skeletal muscle tissues and a novel missense mutation in the DES gene, enlarge the nosological spectrum of desminopathies.

AB - A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing numerous proteins, foremost desmin, as did cardiac biopsy tissue. The explanted heart of the younger brother showed similar protein-rich plaques and granulofilamentous material within cardiac myocytes. A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 was found in the older brother. While clinical data and muscle biopsy pathology of the older brother conform to the nosological spectrum of desminopathies, the early-onset cardiomyopathy, a similar cardiac pathology as in skeletal muscle tissues and a novel missense mutation in the DES gene, enlarge the nosological spectrum of desminopathies.

KW - Adult

KW - Aspartic Acid

KW - Cardiomyopathy, Restrictive

KW - Chromosomes, Human, Pair 2

KW - DNA Mutational Analysis

KW - Desmin

KW - Exons

KW - Family Health

KW - Glutamic Acid

KW - Humans

KW - Immunohistochemistry

KW - Male

KW - Middle Aged

KW - Muscle, Skeletal

KW - Mutation

KW - Myocardium

KW - Staining and Labeling

KW - alpha-Crystallin B Chain

KW - Comparative Study

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1007/s00401-005-0980-1

DO - 10.1007/s00401-005-0980-1

M3 - Article

C2 - 15759133

SN - 0001-6322

VL - 109

SP - 411

EP - 417

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 4

ER -