Phenotype #0000239606

Individual ID 00315861
Associated disease MD
Phenotype details see paper; ..., 16y-first elevated CK (HP:0003236), 7,424; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; no calf hypertrophy (-HP:0008981); myalgias (HP:0003326); reduced deep tendon reflexes (HP:0001315); loss of ambulation (HP:0002505), wheelchair; reduced respiratory function (HP:0002747), continuous non-invasive ventilation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MYPLG
Age/Examination 35y (35 years)
Age/Diagnosis -
Age/Onset 16y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-10-29 16:12:56 +01:00 (CET)
Date last edited 2023-06-02 11:44:17 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.