Table 1 Summary of limb-girdle muscular dystrophy 2Y in previous studies
| Â | IV:5 [2] | IV:2 [2] | II:1 [3] | II:2 [3] | Unknown Diagnosis Network case [4] | Individual 1 [5] | Individual 2 [5] | Present case |
|---|---|---|---|---|---|---|---|---|
Sex | Female | Male | Male | Female | Female | Male | Male | Male |
Developmental milestones of motor | NA | NA | Delayed | NA | Not able to jump or run | Normal | Delayed | Normal |
Onset age of muscle weakness | 7y | 17y | 10y | 10y | 8y | between 8y and 31y | 12y | 8y |
Symptom | ||||||||
 Proximal muscle | Limb-girdle weakness | Limb-girdle weakness | Limb-girdle weakness | Normal | Proximal weakness of lower limbs | Limb-girdle weakness | Limb-girdle weakness | Limb-girdle weakness, upper limbs predominace |
 Distal muscle | Normal | Severe distal weakness and atrophy | Weakness of foot dorsiflexion | Normal | Normal | Normal | Global muscle weakness at 16y | Unable to extend his wrist and finger |
 Others | – | – | Ptosis | Cardica failure and lethargy | Dysphagia of liquids and urinary incontinence | Multisystem anomalies and progeroid features | Multisystem anomalies and progeroid features | – |
 Function of lower limbs | Not able to rise from floor(29y) | Walk for 40 m(36y) | 6-min walk test: 250 m(21y) | NA | Not able to walk for more than 25–50 ft.(14y) | NA | Mostly wheelchair-bound(16y) | 6-min walk test: 565 m(40y) |
Disorder of joints and spine | ||||||||
 Interphalangeal joints | Y | N | Y | NA | NA | Y | Y | N |
 Achilles tendon | N | Y | Y | NA | NA | N | Y | Y |
 Spine disorder | Rigid spine | Rigid spine | Thoracic kyphosis | NA | NA | N | kyphoscoliosis | N |
 Others | – | – | – | – | – | – | Mixed pectus carinatum and pectus excavatum | – |
Joint contracture of elbows and wrists | ||||||||
Cardiac symptoms | Normal | Mild diastolic and systolic dysfunction | Dilated cardiomyopathy | Dilated cardiomyopathy | NA | Dilated cardiomyopathy | Dilated cardiomyopathy | No related complainment |
Ventricular extrasystoles | Heart transplantation | Heart transplantation | Implantable cardioverter defibrillator implantation | Died at 16y due to heart failure | ||||
FEV1% | 43% | 63% | Normal | NA | Reduced | NA | NA | NA |
Gene | c.186delG (homo) | c.186delG (homo) | c.127delC | c.127delC | NA | c.945_948delCAGT | c.724delG | c.98dupC (homo) |
c.1181 T > C | c.1181 T > C | c.1331G > C | c.649G > T | |||||
CK (U/L) | 89 | 483 | Normal | NA | 10,000 | NA | 45 | 338 |
Muscle MRI | NA | NA | NA | NA | Bilateral symmetric atrophy of the medial and posterior compartmen in thigh | NA | NA | NA |
No atrophy in calf | ||||||||
Muscle pathology | ||||||||
 myopathic feature | Y | Y | Y | NA | Y | NA | Y | Y |
 inner nuclei | Y | Y | Y | N | Y | Y | ||
 angular fibre | N | Y | Y | N | N | Y | ||
 Split fiber | N | N | Y | N | N | Y | ||
 Others | – | Nuclear clumps | – | Perimysial and endomysial lymphocytic inflammation | – | Aggregation | ||
Type 2 fibres predominated | Positive MHC-1 and C5b9 staining | Reduced oxidative enzymes activity in Type 2 fibers | ||||||
Subsarcolemmal vacuolar change | Core-like structure | |||||||
| Â | Rimmed vacuoles | |||||||
Ultrastructural change | ||||||||
 envelope disruption | NA | Y | Not mentioned | NA | Y | NA | NA | Y |
 Spare Sarcomere | Y | Y | Core-like structure | Y | ||||
 Others | – | – | Autophagic debris | Increased subsarcolemmal lysosome | ||||
basal lamina duplication | ||||||||