DCM |
Duchenne |
X-linkedrecessive |
1:5000 boys |
Variable |
Dystrophin |
Sarcolemma associated |
<5 years |
muscle weakness;wheelchair in teens; |
ECG abnormalities, Arrhythmias |
[202] |
|
|
|
|
|
|
|
|
mild cognitive impairment, death in 20s/30s |
|
Becker |
X-linkedrecessive |
1:18450 boys |
Variable |
|
Sarcolemma associated |
Teenage |
muscle weakness; respiratory failure might develop by late 40s |
ECG abnormalities |
[203] |
|
Limb-girdle type 2C-2F |
Autosomal recessive |
unknown,usuallysporadic |
Variable |
α, β, γ, δ- Sarcoglycan |
Sarcolemma associated |
Early to adult childhood |
Muscle weakness, difficult ambulation, calf hypertrophy |
ECG abnormalities |
[204] |
|
Limb-girdle 2I |
Autosomal recessive |
|
Most common: missense mutations (leu276Ileu) |
Fukutin-related protein gene |
Golgi membrane |
|
Muscle weakness |
DCM (30–80% of cases), ECG abnormalities |
[205, 206] |
|
MDC1A |
Autosomal Recessive |
1:30000 |
INDELs, missense and nonsense mutations in LAMA2 |
Partial or complete deficiency in Laminin α2 |
Extracellular matrix |
Birth or first 6 months of life |
Hypotonia, poor suck and cry, delayed motor development, never achieve ambulation. |
Sub-clinical findings in about 35% of patients with cardiac evaluation; Variable cardiac phenotype; ECG abnormalities; right bundle branch block |
[82, 207] |
CSD |
DM1 |
Autosomal dominant |
1:8000 |
CTG repeats in DMPK 3’UTR |
DMPK |
Differential subcellular localisation |
Congenital, childhood adult |
Mild- Cataracts, mild myotonia; Classic- Myotonia, cardiac abnormalities, cataract; |
ECG abnormalities Ectopic beats, atrial and ventricular tachycardias, atrial fibrillations, sudden cardiac death |
[208] |
|
DM2 |
Autosomal dominant |
10% of DM |
CCTG repeats in CNBP
|
CCHC-type zinc finger |
|
Adult, usually fourth decade |
Congenital- Respiratory and cardiac defects, intellectual disability |
Arrhythmias, conduction defects |
|
Facioscapulohu-meral |
Autosomal dominant |
1:20,000 |
shortened repeats (1-10) in D4Z4
|
DUX4 |
Nuclear |
childhood to adult |
Facial muscle weakness; can affect legs; normal life span but children with infantile form in wheelchair by 10 |
Rare cardiac defects: supraventricular tachycardia and AVS block |
[209] |
CSD and DCM |
Limb-girdle type 1B |
Autosomal dominant |
Unknown,usuallysporadic |
Missense &deletion in rod domain of LMNA
|
lamin A andlamin C |
Nuclear envelope |
Early childhood to adult |
Muscle weakness |
CSD, DCM, AV conduction defects, atrial standstill/ flutter/ fibrillation, arrhythmias |
[210] |
|
Emery-Dreifuss |
X-linked recessive, autosomal dominant or recessive |
1-2/100000 |
Variable, mostly point mutation (> 49%) in EMD |
|
Nuclear membrane |
First or second decade, sometimes adult |
Joint contracture in childhood; progressive muscle weakness |
AV conduction defects, fibrosis, a atrial standstill/ flutter/ fibrillation, (DCM, rare) |
[211] |
|
|
|
|
Nonsense and missense mutation in LMNA
|
|
|
|
cardiac involvement |