Neuromuscular

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LARGE OR PROMINENT MUSCLES

Drugs
Endocrinopathy
Focal enlargement
Infections
Lipodystrophy
Macroglossia
Muscular dystrophy
Myostatin
Overusage
Partial denervation
Pathology
Short stature
Storage disorders

Amyloidosis:
Enlarged tongue


Overusage Partial Denervation Endocrinopathy Muscular Dystrophies Infections Drug treatment Storage & replacement Focal enlargement Skeletal Disorders: Short stature, etc. Lipodystrophy syndromes1

MUSCLE & MUSCLE FIBER HYPERTROPHY: Pathology



Beckwith-Wiedemann syndrome
  l Cyclin-dependent kinase inhibitor 1C
  l Duplication of chromosome 11p15.5; Dominant with incomplete penetrance
  l Influenced by genomic imprinting and uniparental disomy

Myhre Syndrome
  l Autosomal Dominant

Lipodystrophy

Insulin-resistant diabetes mellitus with acanthosis nigricans (Flier's syndrome)
  l Insulin receptor ; Chromosome 19p13.3; Dominant

Familial partial lipodystrophy: Köbberling-Dunnigan Syndrome 6
  l Lamin A/C ; Chromosome 1q21.2; Dominant

Acquired partial lipodystrophy (Barraquer-Simons syndrome) 5
  l Lamin B2 (LMNB2) Chromosome 19p13.3; Often sporadic

Berardinelli-Seip Congenital Lipodystrophy Syndrome
  l 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2) ; Chromosome 9q34; Recessive
  l BSCL2 ; Chromosome 11q13; Recessive

Hemifacial Myohyperplasia3
  l Recessive or Sporadic

Muscle hypertrophy syndrome4
  l Myostatin (GDF 8) ; Chromosome 2q32.1; Recessive
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References
1. Am J Med 2000;108:143-152
2. Am J Med Genet 2001;Online July 24
3. Am J Med Genet 2001;103:326-333
4. N Engl J Med 2004;350:2682-2688
5. Am J Hum Genet 2006; August
6. Neurology 2007;68:677-683

3/12/2007