Disease #00005

Official abbreviation LGMD-2I;MDDGC-5
Name dystrophy, muscular, limb-girdle, type 2I (LGMD-2I, dystroglycanopathy C5 (MDDGC-5))
OMIM ID 607155
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 16
Associated with 1 gene FKRP
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00001503 - - - M - - - - - - - CAAHD, CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00101231 29065428-Pat1 PubMed: Navarro-Cobos 2017 2-generation family, patient and milder affected sister, unaffected heterozygous carrier parents M no Mexico Mexican >10y 0 yes - LGMD-2I;MDDGC-5 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 FKRP FKRP 2 2 Miguel Angel Alcántara-Ortigoza
00267245 DMD-786 PubMed: Alcántara 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Mexico Mexican 15y 0 yes - LGMD-2I;MDDGC-5 “BMD phenotype”, hyperCKemia, MP-EMG; died at age 15y due to dilated cardiomyopathy, confirmed by post-mortem study; compound heterozygous sister deceased at 30y due to dilated cardiomyopathy FKRP FKRP 2 2 Miguel Angel Alcántara-Ortigoza
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