Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: PNPLA2
Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides. More than 5 families reported.Created: 7 Feb 2021, 3:10 a.m. | Last Modified: 7 Feb 2021, 3:10 a.m.
Panel Version: 0.6247
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy MIM#610717
Publications
PMID: 32269696 - 1 patient with both upper and lower limb weakness. She had elevated CK levels, with onset >25 years old.
PMID: 21544567 - 6 patients with distal muscle weakness, shoulder girdle weakness and elevated CK levels. Severe dystrophic features of the shoulder girdle noted in 3/3 patients analysed by whole body MRI. Proximal muscle weakness was generalised first, with lower limbs affected in the 3rd/4th decade of life. Earliest age of onset 29 years old, 5/6 patients had homozygous PTCs.
Sources: LiteratureCreated: 22 Jun 2020, 1:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy 610717
Publications
Gene: pnpla2 has been classified as Green List (High Evidence).
Gene: pnpla2 has been classified as Green List (High Evidence).
gene: PNPLA2 was added gene: PNPLA2 was added to Limb Girdle Muscular Dystrophy. Sources: Literature Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to PMID: 32269696; 21544567 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717 Review for gene: PNPLA2 was set to GREEN