Table 1.
Summary of positive diagnoses
| Diagnosis | No. affected per family | Transmission | Gene | Nucleotide change | Peptide change |
|---|---|---|---|---|---|
| Limb girdle muscular dystrophy, type 2D | 3 | AR | SGCA | Novel, homozygous 574C > T | R192X |
| Limb girdle muscular dystrophy, type 2B | 1 | AR | DYSF | 2 novel heterozygous mutations, 2643 + 1G > A, 4018G > C | Splice site, G1340R |
| Ataxia telangiectasia | 2 | AR | ATM | Novel Nt7985T > A | V2662D |
| Duchenne muscular dystrophy | 2 | X-linked | DMD | Novel 3784delG | 1262E > Frameshift KX20 |
| Duchenne muscular dystrophy | 2 | X-linked | DMD | Novel 1423G > T | 475E > X |
| Lafora disease | 2 | AR | EPM2B | Novel homozygous 560A > C | H187P |
| Myotonia congenita | 1 | AR | CLCN1 | Homozygous 501C > G, heterozygous 313C > T, heterozygous 1672C > T | F167L, R105C, P558S |
| Spinocerebellar ataxia, type 3 | 2 | AD | ATXN3 | Heterozygous CAG repeat expansion (73, 14) | Polyglutamine expansion |
| Spinocerebellar ataxia, type 7 | 3 | AD | ATXN7 | Heterozygous CAG repeat expansion (56, 12) | Polyglutamine expansion |
| Spinocerebellar ataxia, type 7 | 2 | AD | ATXN7 | Heterozygous CAG repeat expansion (59, 11) | Polyglutamine expansion |
| Kearns–Sayre syndrome | 1 | Mitoch | Mitoch DNA | 5,585 bp deletion | N/A |
AD autosomal dominant, AR autosomal recessive, Mitoch mitochondrial