Muscular Dystrophies:

LIMB GIRDLE MD

Chromosomes have two arms, a short "p" and a long "q", in which genes are located.

LGMD1-Dominant

Type

Information

1A:

 

Onset: young adults

Progression: slow, late loss of ambulation

Gene location: Chromosome 5q31

Gene product: Myotolin

1B:

 

Onset: 4 to 38 years

Progression: slow

Gene location: Chromosome 1q11-q21

Gene product: LaminA/C

1C:

 

Onset: usually childhood

Progression: variable

Gene location: Chromosome 3p25

Gene product: Caveolin

1D:

 

Onset: early adulthood

Progression: slow

Gene location: Chromosome 7q

Gene product: unknown

1E:

 

Onset: early adulthood

Progression: slow

Gene location: Chromosome 6q

Gene product: unknown

LGMD2-Recessive

Type

Information

2A:

 

Onset: 3-30 years

Progression: the earlier the onset the more rapid the progression

Loss of walking in 20 years

Gene location: Chromosome 15q15-21

Gene product: Calpain 3

2B:

 

Onset: Late teens

Progression: generally slow, some more rapid

Gene location: Chromosome 2p13

Gene product: Dysferlin. Same gene responsible for the distal Miyoshi myopathy

2C:

 

Also known as Severe Childhood Autosomal Recessive Muscular Dystrophy

Onset: variable, generally during first decade

Progression: very variable, even within families

Gene location: Chromosome 13q12-13

Gene product: gamma-sarcoglycan

2D:

 

Onset: most variable, generally during first decade

Progression: very variable

Gene location: Chromosome 17q12-21

Gene product: alpha-sarcoglycan, formerly called adhalin

2E:

 

Onset: variable, generally during first decade

Progressions: very variable, often in wheelchair by 10-15 years

Gene location: Chromosome 4q12

Gene product: beta-sarcoglycan

2F:

 

Onset: variable, generally during first decade

Progression: variable

Gene location: Chromosome 5q33-34

Gene product: delta-sarcoglycan

2G:

 

Onset: childhood

Progression: moderate

Gene location: Chromosome 17q11-12

Gene product: telethonin

2H:

 

Onset: 8-27 years so far reported

Progression: slow

Chromosome 9p31-33

Gene product: unknown

2I:

 

Onset: not known

Progression: not confirmed

Gene Location: Chromosome 19q13

Gene Product: not known


Additional Information

Neuromuscular

OMIM Link 1

OMIM Link 2

OMIM Link3


 


 

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