Table 7 Summary of clinical and molecular findings in patients with autosomal dominant inheritance pattern (Transportinopathy (LGMD 1 F/D2), laminopathy (LGMD 1B), and LGMD1D, respectively)
From: A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies
Case number | Gene | Transcript | Variant | OMIM | Inheritance | Zygosity | ACMG classification | ClinVar | dbSNP rsID | Age | Sex | Consanguinity | Indication |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
45 | TNPO3 | NM_012470.4 | c.1417G > A p.V473I | 608423 | AD | Het | VUS | VUS | rs150330408 | 19 years | Male | Yes | Motor delay, progressive muscle weakness, and elevated level of CPK |
46 | LMNA | NM_001282625 | c.746G > A p.R249Q | 181350 613205 159001 | AD | Het | Pathogenic | Conflicting | rs59332535 | 8 years | Male | Yes | Muscle weakness from 2 years, osteomalacia, inability to walk, normal CPK |
47 | DNAJB6 | NM_058246.4 | c.947 C > T p.S316L | 603511 | AD | Het | VUS | VUS | rs371304535 | 10 years | Female | No | Motor delay, spasticity |