| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
60 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
58 YR |
| 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 |
| Gene, variant, consequence, and exon number: |
FKRP, C.826C>A (P.L276I), MISSENSE, EXON 4 |
| Zygosity: |
Homozygous |
| Other variants: |
SYNE1, C.14615C>T (P.A4872V), HETEROZYGOUS, EXON 77, VARIANT OF UNKNOWN CLINICAL SIGNIFICANCE.
TTN, C.73178C>T (P.A24393V). HETEROZYGOUS, EXON 275, VARIANT OF UNKNOWN CLINICAL SIGNIFICANCE.
TTN, C.75812G>A (P.R25271Q). HETEROZYGOUS, EXON 275, VARIANT OF UNKNOWN CLINICAL SIGNIFICANCE. |
| 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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| Additional Information: |
LIMB-GIRDLE MUSCULAR WEAKNESS |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| 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 |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
Clinically affected. Limb-girdle muscular weakness. Apparently homozygous mutation c.826C>A (p.L276I) in the FKRP gene. Unaffected mother is GM27194. |