Molecular Pathology: Immunohistochemistry for Inherited Myopathies

Laboratory / Diagnostics

lab/mbiopsy.htm#Molecular Pathology: Immunohistochemistry for Inherited Myop

Overview

From WUSTL Neuromuscular

Cytoplasmic proteins Extracellular proteins Nuclear proteins Sarcolemmal proteins Extracellular molecules Laminins Laminin γ1-chain: Control for assessment of basement membrane in basal lamina disorders Laminin α2 (Merosin) Normal: Diffusely present on basal lamina & IM nerves Absent Congenital muscular dystrophy Associated with reduced laminin β2, α-dystroglycan & integrin α7 Reduced Primary: Myopathy Secondary: FKRP (LGMD 2I, CMD + muscle hypertrophy, MEB, Walker-Warburg syndrome Laminin-β1: Reduced in Bethlem myopathy Collagen Bethlem myopathy: Collagen VI staining normal; Laminin-β1 reduce

Related Conditions

Shared genes

Dystroglycans and Other proteins associated with the Dystrophin-Sarcoglycan complex

DGPO4

External Resources

WUSTL Neuromuscular

Washington University Disease Center

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.