Disease #02705 (LGMD-1C (dystrophy, muscular, limb-girdle, type 1C (LGMD-1C)), OMIM:607801)

Official abbreviation LGMD-1C
Name dystrophy, muscular, limb-girdle, type 1C (LGMD-1C)
OMIM ID 607801
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene CAV3
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00301523 - - 2 generation family (1F), unaffected heterozygous father F no Greece - 45y 0 - - LGMD-1C - CAV3 CAV3 1 1 Helen Latsoudis
00309878 Patient 1 PubMed: Zehravi 2021 - M yes Pakistan Asian - 0 Yes No LGMD-1C Proximal muscle weakness of lower limbs (HP:0008994), Toe walking (HP:0040083), Frequent falls (HP:0002527), Myalgia (HP:0003326), Gowers sign (HP:0003391), Hyperlordosis (HP:0003307), Calf muscle pseudohypertrophy (HP:0003707), Flexion contracture (HP:0001371), Elevated serum creatinine kinase (HP:0003236), EMG abnormality (HP:0003457) - CAV3, DMD, YARS2 3 1 Mehwish Zehravi
00310208 Patient 3 PubMed: Zehravi 2021 - M yes Pakistan Asian - 0 Yes None LGMD-1C Muscle weakness (HP:0001324), Progressive muscle weakness (HP:0003323),Difficulty climbing stairs (HP:0003551), Difficulty walking (HP:0002355), Toe walking (HP:0040083), Frequent falls (HP:0002527), Myalgia (HP:0003326), Gowers sign (HP:0003391), Hyperlordosis (HP:0003307), Calf muscle pseudohypertrophy (HP:0003707), Flexion contracture (HP:0001371), Elevated serum creatinine kinase (HP:0003236), EMG abnormality (HP:0003457) - CAV3, DMD, YARS2 3 1 Mehwish Zehravi
00361989 Pat11 PubMed: Saat 2021 - M no Turkey - - 0 - - LGMD-1C Hypotonia HP:0001252 A2M CAV3 1 1 Ibrahim Sahin
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