| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
79 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Age of Symptom Onset and Age at Diagnosis |
| 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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| Developmental Milestones |
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| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Achieved and maintained |
| Running: |
Not achieved and not maintained |
| 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: |
CREATINE KINASE LEVEL
MUSCLE BIOPSY |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
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GRANDMOTHER, FATHER, BROTHER, AND NUMEROUS OTHER RELATIVES ARE AFFECTED. |
| Remarks |
Clinically affected. Congenital myopathy was confirmed by creatine kinase level and muscle biopsy. Phenotype resembles limb-girdle muscular dystrophy. Three heterozygous VOUS detected by the NGS gene panel. COL6A3 c.5839-3C>T, POMT1 c.1565G>A(p.R522K) and SYNE1 c.14509A>C(p.S4837R). Family history affects numerous relatives for many years. |