Phenotype #0000079478

Individual ID 00101231
Associated disease MDDGC5;LGMDR9;LGMD2I
Inheritance Familial, autosomal recessive
Phenotype details proximal and pelvic muscle weakness with Gowers' sign, discrete calf pseudohypertrophy; 14m-independent ambulation; 6y-myopathic gait, frequent falls, difficulties in running and with climbing; 10y-still ambulant; MRI muscle with adipose infiltration at gluteus maximus, adductor muscles and vastus lateralis; 9y-cardio-respiratory; hyperCKemia
Diagnosis/Initial -
Age/Examination 09y (9 years)
Diagnosis/Definite -
Age/Diagnosis 09y
Age/Onset 01y04m
Phenotype/Onset delayed gait acquisition
Protein -
Owner name Miguel Angel Alcántara-Ortigoza
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Miguel Angel Alcántara-Ortigoza
Date created 2017-03-22 03:15:06 +01:00 (CET)
Date last edited 2017-03-22 09:12:02 +01:00 (CET)

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