Powerful masticatory muscles are found in most primates, including chimpanzees and
gorillas, and were part of a prominent adaptation of Australopithecus and Paranthropus …

Spontaneous and engineered mouse mutants have facilitated our understanding of the
pathogenesis of muscular dystrophy and they provide models for the development of …

Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle
trafficking in eukaryotic cells. Proteins that bind specific phosphoinositides mediate …

Nemaline myopathies are diseases characterized by the presence in muscle fibres of
pathognomonic rod bodies. These are composed largely of α–actinin and actin. We have …

Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have
recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently …

Myosin-2 is essential for processes as diverse as cell division and muscle contraction.
Dephosphorylation of its regulatory light chain promotes an inactive,'shutdown'state with the …

Myosin VIIa is a newly identified member of the myosin superfamily of actin-based motors.
Recently, the myosin VIIa gene was identified as the gene defective in shaker-1, a recessive …

USHER syndrome represents the association of a hearing impairment with retinitis
pigmentosa1 and is the most frequent cause of deaf–blindness in humans. It is inherited as …

Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form
of muscular dystrophy characterized by adult onset of proximal weakness progressing to …

Muscle contraction results from the force generated between the thin filament protein actin
and the thick filament protein myosin, which causes the thick and thin muscle filaments to …