Neuromuscular

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Dysferlin Deficiency (LGMD 2B)

Early Pathology:
  Necrosis & Regeneration
Early Pathology:
  Myopathic Groups

Angular Fibers: NADH staining Later pathology:
  Increased connective tissue

Perimysial inflammation
Hypertrophic muscle fibers
Perivascular inflammation

Normal:
  Dysferlin around muscle fibers
LGMD 2B: Absent dysferlin

Dysferlin mutations: Ultrastructure

From: C Angelini
Sarcolemma: Focal lesion Sarcolemma: Focal projections

Subsarcolemmal region: Vacuoles Subsarcolemmal region: Disrupted internal architecture

Dysferlinopathy: Muscle CT

From: C Angelini
Leg MRI: Involvement of posterior-medial gastrocnemius

Thigh MRI: Involvement of posterior muscles

Return to Pathology Index
Return to LGMD 2B

5/7/2006