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predominantly affecting proximal muscles Distal muscles are usually normal or only slightly involved However, there may be a subgroup of MmD that manifests with predominantly distal hand weakness14,15 Facial muscle weakness, ptosis, and occasionally ophthalmoparesis can also been seen It is unclear if these patients represent a distinct subgroup of MmD Muscle contractures and multiple skeletal deformities such as kyphoscoliosis, high-arched palate, and club feet are common ndings Weakness is usually stable or only slowly progressive15 Neck extensors and trunk muscles are frequently contracted, leading to rigidity of the spine Cardiomyopathy and ventilatory muscle involvement can also develop16,18 Respiratory involvement is disproportionate to the degree of scoliosis14,15 Patients may require intermittent or continuous positivepressure ventilation

My editors are pounding on me to get this last chapter submitted, but I can t resist showing you a bit more just two more projects, and then I ll let you go. These are just to give you a taste of where you re heading. Fire up Xcode, and choose New Project from the File menu. When the New Project window appears, select Command Line Utility on the left side of the window. Then, choose Core Foundation Tool from the list that appears (see Figure 12-1), and click the Choose button. Name the project tasteOfObjC.

Serum CK is usually normal or only slightly elevated Pulmonary function tests often reveal reduced forced vital capacities Polysomnographic studies may disclose nocturnal desaturations and short apnea periods NCS are normal EMG usually reveals normal insertional and spontaneous activity, although early recruitment of short-duration, small-amplitude MUAPs may be appreciated

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Figure 25 4 Multi/minicore myopathy Electron microscopy reveals small areas of myo brillar disarray similar to central core myopathy but much smaller

When the project appears, select Build and Run from the Build menu. Once the build is complete, bring up the console window. You should see this text:

nail_mc_y += bashAmt; rotateAmt -= bashAmt / 7; if(nail_mc_y >= nailIn) { } }

Muscle biopsies reveal multiple small regions within muscle bers of variable size (minicores) formed by disorganization of the myo brils (Fig 25 3)14,15 These minicores are similar to central cores but are much smaller and do not extend the entire length of the muscle ber as do central cores In addition, minicores can occur in either type 1 or type 2 muscle bers Type 1 ber

predominance and atrophy as well as ber size variation are also noted There can be increased endomysial connective tissue as well EM demonstrates myo brillar disruption similar to that seen in central cores (Fig 25 4)

Hello, World!

This is a genetically heterogeneic group of disorders The absence of clear dominant transmission in any wellestablished case and the presence of several consanguineous families strongly suggest that MmD usually is an autosomal-recessive entity or secondary to spontaneous mutations15 However, some patients with suspected MmD have demonstrable mutations in the RyR1 gene similar to central core myopathy an autosomal dominant disorder3,8,10,19,20 Mutations in the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus), have been demonstrated in some patients with classic MmD21 Of note, this is the same gene responsible for the congenital muscular dystrophy with rigid spine syndrome and some cases of myo brillary myopathy21 The dystrophic changes and histological features of myo brillar myopathy apparent on some muscle biopsies and SEPN1 mutations identi ed in some cases of MmD highlight the dif cult nosological boundaries between various types of congenital myopathies and muscular dystrophies In addition, mutations in coi in-2 gene encoded on chromosome 14q13 have been reported in two siblings that had nemaline rods and minicores on muscle biopsy

6 In the Toolbar, select the Selection tool 7 Select the fill of the rectangle on the Stage by single-clicking the

Figure 25 3 Multi/minicore myopathy NADH stain demonstrates small areas devoid of oxidative enzyme activity

That s it. This project is the starting point for your next big adventure mastering Objective-C. You ll find that your Objective-C output looks much the same as your C output. All your programs will run in the console window. The difference You ll be building and using objects. Take the time to understand the mechanics of programming with Objective-C before you add Cocoa to the mix. Speaking of Cocoa, let s build a Cocoa project, since we re here. Back in Xcode, choose New Project from the File menu. When the New Project window appears, select Application, the very first item under the heading Mac OS X. Then, select Cocoa Document-based Application from the list that appears (see Figure 12-2), and click the Choose button. Name the project tasteOfCocoa.

No speci c medical treatment is available Patients may be at risk of malignant hyperthermia and should be counseled accordingly (see central core myopathy)10,22,23 Early-onset scoliosis is common and may require extensive arthrodesis Patients may require intermittent or continuous positive-pressure ventilation

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