title: Caveolinopathy--new mutations and additional symptoms.
abstract: Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients (six families) were identified via the National Commissioning Group (NCG) service for patients with limb girdle muscle dystrophy in Newcastle. Myalgia was the most prominent symptom in our cohort of patients and for 50% it was the reason for referral. Muscle weakness was only found in 60% of the patients, whereas rippling muscle movement was present in 80%. One of the patients reported episodes of myoglobinuria and another one episodes of hypoglycaemia. Five different mutations were identified, two of which were novel and three that had previously been described. Caveolinopathy needs to be considered as a differential diagnosis in a range of clinical situations, including in patients who do not have any weakness. Indeed, rippling muscles are a more frequent symptom than weakness, and can be detected in childhood. Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life.
authors.affiliation: Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Aboumousa
authors.forename: Jessica
authors.initials: J
authors.lastname: Hoogendijk
authors.forename: Richard
authors.initials: R
authors.lastname: Charlton
authors.forename: Rita
authors.initials: R
authors.lastname: Barresi
authors.forename: Ralf
authors.initials: R
authors.lastname: Herrmann
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.forename: Judith
authors.initials: J
authors.lastname: Hudson
authors.forename: Mark
authors.initials: M
authors.lastname: Roberts
authors.forename: David
authors.initials: D
authors.lastname: Hilton-Jones
authors.forename: Michelle
authors.initials: M
authors.lastname: Eagle
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
mesh_terms: D000328:Adult; D051244:Caveolin 3 / Q000235:genetics* / Q000378:metabolism; D002648:Child; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism; D018908:Muscle Weakness / Q000209:etiology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D009212:Myoglobinuria / Q000209:etiology; D006113:United Kingdom
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D009124:Muscle Proteins