Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000292052 Individual ID 00398963 Associated disease LGMDR12;LGMD2L Phenotype details see paper; ..., limb-girdle weakness; no distal weakness; raised CK (2300 U/L); no exercise-induced myalgia; no rhabdomyolysis; muscle biopsy no necrosis, no regeneration, no nuclei internalization, no endomysial inflammation, no partial invasion muscle cells, no ragged-red fibers (prominent), lipid accumulation; MRI muscle thigh muscle edema, thigh muscles fatty replacement, edema of lower leg muscles, no fatty replacement of lower leg muscles Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 33y Phenotype/Onset - Protein - Owner name Lidia Gonzalez-Quereda Database submission license No license selected Created by Lidia Gonzalez-Quereda Date created 2013-08-08 12:22:02 +02:00 (CEST) Date last edited 2022-01-14 17:23:13 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.