Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
MDDGC9

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Lumbar lordosis skeletal 100 % 14678799 2024-05-10
Calf hypertrophy skeletal 100 % 14678799 2024-05-10
Elevated creatine kinase (CK) levels circulatory 100 % 14678799 2024-05-10
Muscle weakness multi 100 % 14678799 2024-05-10
Gait disturbances skeletal 100 % 14678799 2024-05-10
Mental retardation nervous 100 % 14678799 2024-05-10
Developmental delay nervous 100 % 14678799 2024-05-10
Contracture nervous 50 % 14678799 2024-05-10
non-walking multi 50 % 14678799 2024-05-10



List of references:


A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Pervin Dinçer, Burcu Balci, Yeliz Yuva, Beril Talim, Martin Brockington, Deniz Dinçel, Silvia Torelli, Sue Brown, Gülsev Kale, Göknur Haliloglu, Filiz Ozbas Gerçeker, Rengül Cetin Atalay, Cengiz Yakicier, Cheryl Longman, Francesco Muntoni, Haluk Topaloglu,



Neuromuscular disorders : NMD - Dec 2003