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Charcot Marie Tooth due to a mutation in Lamin A/C gene Neuromuscul Dis 2003;13(1):60 67 Tazir M, Azzedine H, Assami S, et al Phenotypic variability in autosomal recessive axonal Charcot Marie Tooth disease due to the R298 C mutation in lamin A/C Brain 2004;127(Pt 1):154 163 Bouhouche A, Birouk N, Azzedine H, et al Autosomal recessive axonal Charcot Marie Tooth disease (ARCMT2): Phenotype genotype correlations in 13 Moroccan families Brain 2007 2007 Apr;130(Pt 4):1062-75 Dyck PJ, Litchey WJ, Minnerath S, et al Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis Ann Neurol 1994:35:608 615 Pridmore C, Baraister M, Brett EM, Harding AE Distal spinal muscular atrophy with vocal cord paralysis J Med Genet 1992;29:197 199 Klein CJ, Cunningham JM, Atkinson EJ, et al The gene for HMSN2 C maps to 12q23 24: A region of neuromuscular disorders Neurology 2003;60:1151 1156 Young ID, Harper PS Hereditary distal spinal muscular atrophy with vocal cord paralysis J Neurol Neurosurg Psychiatry 1980;43:413 418 Ionasescu V, Searby C, She eld VC, Roklina T, Nishimura D, Ionasescu R Autosomal dominant Charcot Marie Tooth axonal neuropathy mapped on chromosome 7p (CMT2D) Hum Mol Genet 1996;5:1373 1375 Sambuughin N, Sivakumar K, Selenge B, et al Autosomal dominant distal spinal muscular atrophy type V (dsSMAV) and Charcot Marie Tooth disease type 2D (CMT2D) segregate within a large kindred and map to a re ned region on chromosome 7p15 J Neurol Sci 1998;161:23 28 Antonellis A, Ellsworth RE, Sambuughin N, et al Glycyl tRNA synthetase mutations in Charcot Marie Tooth disease type 2D and distal spinal muscular atrophy type V Am J Hum Genet 2003;72:1293 1299 Sivakumar K, Kyriakides T, Puls I, et al Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations Brain 2005;128(Pt 10):2304 2314 James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene Neurology 2006;14;67(9):1710 2 Erratum in Neurology 2007;68(9):711 Jordanova A, De Jonghe P, Boerkoel CF, et al Mutations in the neuro lament light chain gene (NEFL) cause early onset severe Charcot Marie Tooth disease Brain 2003;126:590 597 Ismailov SM, Fedotov VP, Dadali EL, et al A new locus for autosomal dominant Charcot Marie Tooth disease type 2 (CMT2 F) maps to chromosome 7q11 q21 Eur J Hum Genet 2001;9:646 650 Evgrafov OV, Mersiyanova I, Irobi J, et al Mutant small heat-shock protein 27 causes axonal Charcot Marie Tooth disease and distal hereditary motor neuropathy Nat Genet 2004;36(6):602 606 Nelis E, Berciano J, Verpoorten N, et al Autosomal dominant axonal Charcot Marie Tooth disease type 2 (CMT2G) maps to chromosome 12q12 q133 J Med Genet 2004;41(3):193 197.

In addition to the above sarcolemmal and related proteins, there are a number of important proteins that compose and support the sarcomere (Fig 24 2) The major contractile myo brillar proteins are the thick and thin laments The main component of the thick laments is a polymer of myosin A single thick lament is composed of nearly 300 myosin molecules Each individual myosin molecule, in turn, consists of a single long tail attached to two head portions that project out from the tail The head and its projecting part are referred to as a cross-bridge, which has two exible hinges: one at the head/arm interface and the other at the arm/ lament interface The entire myosin lament is twisted about a central axis, allowing the cross-bridges to extend longitudinally and circumferentially 360 The head or the myosin heavy chain (MyHC) includes ATP-binding sites that act as an ATPase as well as an actin-binding region The energy liberated by this process is used to maintain the cross-bridge in the extended or cocked position There are three major MyHC isoforms that are expressed in human skeletal muscle (type I, MyH7, expressed in type 1 bers; IIa, MyH2, expressed in 2A bers; and IIx, MyH1, expressed in 2B bers)19 Mutations in genes that encode for various MyHC isoforms cause various myopathies and cardiomyopathies

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Figure 11-8 shows the binary tree after the remainder of the word list has been added. Do you understand how this scheme works What would the binary tree look like if coulomb was the first word on the list The tree would have no left children and would lean heavily to the right. What if yokel was the first word entered As you can see, this particular use of binary trees depends on the order of the data. Randomized data that starts with a value close to the average produces a balanced tree. If the words had been entered in alphabetical order, you would have ended up with a binary tree that looked like a linked list.

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