title: Lipid storage myopathies with unusual clinical manifestations.
abstract: We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis.
authors.affiliation: Nizam's Institute of Medical Sciences, Hyderabad, India.
authors.forename: Megha S
authors.initials: MS
authors.lastname: Uppin
authors.forename: C
authors.initials: C
authors.lastname: Sundaram
authors.forename: A K
authors.initials: AK
authors.lastname: Meena
authors.forename: Krishna Mohan
authors.initials: KM
authors.lastname: Reddy
authors.forename: K Krishna
authors.initials: KK
authors.lastname: Reddy
authors.forename: A
authors.initials: A
authors.lastname: Vanniarajan
authors.forename: K
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D050356:Lipid Metabolism; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D055815:Young Adult