| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
33 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
18 YR |
| Age at Diagnosis(If not a control) |
32 YR |
| Racial Category |
Asian |
| Country |
INDIA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NGS FOCUSED EXOME (6000 GENES) SEQUENCING AND DELETION DUPLICATION ANALYSIS REVEALED A HETEROZYGOUS PATHOGENIC VARIANT (AR) IN EXON 6 OF THE SURF1 GENE (NM_003172.3, CHR9:136219602-138219605, RS1057517942): C.532_535DEL |
| Zygosity: |
Heterozygous |
| Other variants: |
HETEROZYGOUS VARIANTS OF UNCERTAIN SIGNIFICANCE IN THE COL6A1, LARGE, AND MYH2 GENES; COL6A1 (NM_001848.2, CHR21:47417629-47417629, RS760275915): C.1477C>A (P.PRO493THR) IN EXON 22; LARGE (NM_004737.4, CHR22:34046370-34046370, RS56239539): C.391G>A (P.VAL131ILE) IN EXON 4; AND MYH2 (NM_017534.5, CHR17:10429936-10429986, RS374190003): C.4117G>A (P.GLU1373LYS) IN EXON 30 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
18 YEARS |
| Age at Diagnosis: |
32 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD); SCAPULAR WINGING; PROGRESSIVE PROXIMAL WEAKNESS; POSITIVE KILLEY SIGN; HMF; LONG ANTERIOR AND PROXIMAL AXILLARY FOLDS; WASTED THIGH MUSCLE, R>L; PSEUDOHYPERTROPHY OF CALVES; EXTENSOR DIGITORUM BREVIS (EDB) HYPERTROPHY; TRUNCAL WEAKNESS; POSITIVE GOWER SIGN; NO PIH OF PAIN IN THE HIPS OR SHOULDERS; DIFFICULTY CLIMBING |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
NERVE CONDUCTION STUDIES; ELECTROPHYSIOLOGY/EMG TEST RESULT: DEMYELINATIVE TYPE SYMMETRIC MOTOR AXONOPATHY OF BOTH LL WITH E/O RADICULOPATHY; NORMAL MOTOR CONDUCTION WITH NORMAL DELAYED RESPONSES IB BOTH UL; MYOPATHIC AND DENERVATION PATTERN IN EMG |
| Metabolic, Hematologic, and Endocrinologic Testing: |
INCREASED CREATINE PHOSPHOKINASE (CPK), 5017 U/L; NORMAL ERYTHROCYTE SEDIMENTATION RATE (ESR); HYPERCKEMIA |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
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SINGLE CHILD OF CONSANGUINEOUS PARENTAGE; NO FAMILY HISTORY OF DISEASE
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| Remarks |
See "Phenotypic Data" tab. Reprogrammed from parental fibroblast GM28063. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |