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Lipid Myopathies: Clinical classification

MitochondrialSystemic/MultisystemOMIM 201470
W
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Overview

From WUSTL Neuromuscular

Fixed weakness OCTN2: Carnitine transporter Riboflavin-responsive MAD deficiency (ETFDH) SCAD LSMFLAD (FLAD1) MCAD Multiple acyl�CoA dehydrogenase deficiency (GA II) (MADD) Neutral lipid storage disease with ichthyosis (NLSDI) Neutral lipid storage disease with myopathy Sertraline Exercise intolerance, Cramps & Myoglobinuria CPT II deficiency VLCAD Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) Trifunctional enzyme deficiencies (MTP) A & B MCKAT Phosphatidic acid phosphatase (LIPIN 1) Disorder Gene(Common mutation) Clinical, Other Muscle Lipid Acylcarnitine Increase & Other Carn

OMIM Entries

OMIM #201470

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.