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MYOGLOBINURIA: Specific causes

Autosomal DominantSystemic/MultisystemOMIM 180901
W
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Overview

From WUSTL Neuromuscular

Malignant Hyperthermia Malignant Hyperthermia - Central Core Disease (MHS 1) ● Ryanodine Receptor (RYR1) ; Chromosome 19q13; Dominant King-Denborough Syndrome ● Ryanodine Receptor (RYR1) ; Chromosome 19q13; Dominant MHS2 ● SCN4A ; Chromosome 17q11.2-q24; Dominant Same Sodium channel gene as in hyperkalemic periodic paralysis MHS3 ● Calcium channel, Skeletal muscle, Voltage-dependent, L-type, α-2 peptide (CACNL2A) ; Chromosome 7q21-q22; Dominant MHS4 ● Chromosome 3q13.1; Dominant (MHS 4) Epidemiology: Single German family MHS5 ● L-type Calcium Channel, α1S subunit (Dihydropyridine Receptor; CAC

Associated Genes

SCN4A
Sodium Voltage-Gated Channel Alpha Subunit 4
17q23.3

OMIM Entries

OMIM #180901OMIM #145600OMIM #154275OMIM #603967OMIM #154276OMIM #114204OMIM #600467OMIM #601887OMIM #114208OMIM #601888OMIM #600650OMIM #160010

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
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.